Canonical Allele Identifier: CA395952175

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1685335
• ClinVar RCV Id: RCV002249062
• dbSNP Id: rs2143664881
• MyVariant Identifiers: chr16:g.56370663A>C (hg19) ; chr16:g.56336751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336751A>C , CM000678.2:g.56336751A>C	GRCh38
NC_000016.9:g.56370663A>C , CM000678.1:g.56370663A>C	GRCh37
NC_000016.8:g.54928164A>C	NCBI36
NG_042800.1:g.150413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.614A>C	ENSP00000262494.7:p.Gln205Pro
ENST00000262493.12:c.614A>C MANE Select	ENSP00000262493.6:p.Gln205Pro
ENST00000262494.12:c.614A>C	ENSP00000262494.7:p.Gln205Pro
ENST00000562316.6:c.281A>C	ENSP00000457238.2:p.Gln94Pro
ENST00000568375.2:c.6A>C
ENST00000638185.1:n.829A>C
ENST00000638210.1:n.914A>C
ENST00000638705.1:c.614A>C	ENSP00000491223.1:p.Gln205Pro
ENST00000638836.1:n.524A>C
ENST00000639055.1:n.1335A>C
ENST00000639251.1:n.515A>C
ENST00000639268.1:c.249A>C
ENST00000639341.1:c.139A>C
ENST00000639770.1:c.652A>C	ENSP00000491999.1:n.652A>C
ENST00000640390.1:n.544A>C
ENST00000640560.1:n.390A>C
ENST00000640893.1:c.*12A>C	ENSP00000492677.1:n.*12A>C
ENST00000262493.10:c.614A>C	ENSP00000262493.6:p.Gln205Pro
ENST00000262494.11:c.614A>C	ENSP00000262494.7:p.Gln205Pro
ENST00000568375.1:n.6A>C
NM_020988.2:c.614A>C	NP_066268.1:p.Gln205Pro
NM_138736.2:c.614A>C	NP_620073.2:p.Gln205Pro
XM_011523003.1:c.488A>C	XP_011521305.1:p.Gln163Pro
XM_011523003.3:c.488A>C	XP_011521305.1:p.Gln163Pro
NM_020988.3:c.614A>C MANE Select	NP_066268.1:p.Gln205Pro
NM_138736.3:c.614A>C	NP_620073.2:p.Gln205Pro